| autosomaal dominante focale niet-epidermolytische keratosis palmoplantaris met vorming van bullae op plantaire zijde van voet (aandoening) | | autosomaal dominante focale niet-epidermolytische keratosis palmoplantaris met vorming van bullae op plantaire zijde van voet | | autosomaal dominante focale niet-epidermolytische palmoplantaire keratodermie met blaarvorming op voetzool
autosomaal dominante focale niet-epidermolytische palmoplantaire keratodermie met vorming van blaren op planta pedis
| | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | | A rare genetic isolated focal palmoplantar keratoderma disease with characteristics of focal thickening of the skin of the soles and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and occasionally subtle oral leukokeratosis or plantar hyperhidrosis. Caused by heterozygous mutation in the KRT6C gene on chromosome 12q13. |
| | Id | 783136007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q82.8 | | Term | Overige gespecificeerde congenitale misvormingen van huid |
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| SNOMED CT to Orphanet simple map | 402003 |
| SNOMED CT to ICD-10 extended map | | Target | Q82.8 | | Rule | TRUE | | Advice | ALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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